Table 1.
Detail of Ocular Phenotype in X-Linked Megalocornea Patients
| Individual (Age at last follow up in years) |
Family 1 |
Family 2 |
Family 3 |
Family 4 |
Family 5 |
Family 6 |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
II:1 (72) |
II:3 (67) |
II:1 (8) |
II:2 (9) |
II:1 (15) |
II:1 (52) |
III:8 (68) |
V:2 (16) |
|||||||||
| Right | Left | Right | Left | Right | Left | Right | Left | Right | Left | Right | Left | Right | Left | Right | Left | |
| Refractiona | NA | NA | +0.75/−2.00 × 35 | 0.0/−2.50 × 142 | +3.00/−0.5 × 35 | +3.00 | +2.50/−3.00 × 5 | +2.00/−3.00 × 175 | −1.25/−1.00 × 45 | −1.00/−1.25 × 145 | +1.75/−1.25 × 20 | +2.50 | NA | NA | −11.25/−3.50 × 30 | −8.5/−2.75 × 165 |
| Age at cataract surgery (years) | 54 | 58 | 53 | 51 | – | – | – | – | – | – | 48 | 49 | 33 | 41 | – | – |
| −Visual acuity (LogMAR) | 0.3 | 0.0 | −0.1 | −0.1 | 0.4 | 0.25 | 0.2 | 0.1 | 0.0 | 0.0 | −0.1 | 0.6b | 0.0 | 0.2 | 0.18 | 0.1 |
| Iris transillumination | + | + | + | + | NA | NA | + | + | NA | NA | + | + | NA | NA | NA | NA |
| Arcus | + | + | + | + | – | – | – | – | – | – | + | + | + | + | + | + |
| Shagreen | + | + | + | + | - | - | - | - | + | + | + | + | + | + | + | + |
| Anterior chamber depth (mm) | 6.8 | 7.0 | 6.6 | 6.3 | 7.1 | 7.1 | 5.9 | 5.7 | 6.5 | 6.3 | 6.9 | 7.4 | NA | NA | NA | NA |
| WTW (mm) | 16.0 | 16.0 | 15.5 | 15.5 | 15.5 | 15.5 | 15.0 | 15.0 | 15.0 | 15.0 | 16.0 | 16.0 | 14.0 | 14.0 | 14.0 | 14.0 |
| Axial length (mm) | 25.7 | 24.6 | 25.0 | 25.0 | 25.0 | 24.7 | 24.2 | 23.8 | 25.9 | 25.9 | 26.9 | 26.1 | NA | NA | NA | NA |
| Central corneal thickness (μm) | 359 | 365 | 346 | 381 | 377 | 377 | 428 | 446 | 405 | 408 | 439 | 421 | 438 | 437 | 443 | 442 |
The following abbreviations and symbols are used: –, not present; NA, not available; WTW, cornea horizontal diameter, white-to-white.
a
Prior to cataract surgery.
b
Amblyopia.